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Bainbridge-Ropers syndrome

ORPHA:352577 · Disease · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(5)

  • Abnormal speech patternHP:0002167
  • Feeding difficulties in infancyHP:0008872
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(8)

  • Abnormality of the skeletal systemHP:0000924
  • Absent speechHP:0001344
  • Autistic behaviorHP:0000729
  • High, narrow palateHP:0002705
  • MicrocephalyHP:0000252
  • Profound intellectual disabilityHP:0002187
  • Severe intellectual disabilityHP:0010864
  • StrabismusHP:0000486

Occasional (29-5%)(28)

  • Abnormal cerebral white matter morphologyHP:0002500
  • ArachnodactylyHP:0001166
  • Bulbous noseHP:0000414
  • Cerebellar vermis hypoplasiaHP:0001320
  • Decreased facial expressionHP:0004673
  • Dental crowdingHP:0000678
  • Disproportionate tall statureHP:0001519
  • DolichocephalyHP:0000268
  • Downslanted palpebral fissuresHP:0000494
  • Everted lower lip vermilionHP:0000232
  • Highly arched eyebrowHP:0002553
  • HypertelorismHP:0000316
  • HypertoniaHP:0001276
  • Inability to walkHP:0002540
  • Long noseHP:0003189
  • Low hanging columellaHP:0009765
  • Moderate intellectual disabilityHP:0002342
  • Open mouthHP:0000194
  • Pes planusHP:0001763
  • Prominent foreheadHP:0011220
  • Prominent nasal bridgeHP:0000426
  • Recurrent hand flappingHP:0100023
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Sleep disturbanceHP:0002360
  • SynophrysHP:0000664
  • Underdeveloped nasal alaeHP:0000430
  • Upslanted palpebral fissureHP:0000582